Meckel Syndrome, Type 1 (MKS1)

Alias:

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

Mks1

Meckel-Gruber Syndrome, Type 1

Gruber Syndrome

Mks

Mes

Meckel Syndrome Type 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Meckel Syndrome, Type 1, also known as meckel-gruber syndrome, is related to meckel syndrome, type 6 and meckel syndrome, type 5. An important gene associated with Meckel Syndrome, Type 1 is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney and spinal cord, and related phenotypes are microcephaly and multicystic kidney dysplasia

Related ID：

MALACARDS：MCK013

OMIM：249000

MESH：D002925

ICD11：695796893